| 基因名 | 突变 |
|---|---|
| ECHDC3(NM_024693,enoyl CoA hydratase domain containing 3,303aa) | g.10:11797585T>G,c.569T>G,p.L190W |
| ECHDC3(NM_024693,enoyl CoA hydratase domain containing 3,303aa) | g.10:11797500G>A,c.484G>A,p.D162N |
| ECHDC3(NM_024693,enoyl CoA hydratase domain containing 3,303aa) | g.10:11797467G>A,c.451G>A,p.A151T |
| ECHDC3(NM_024693,enoyl CoA hydratase domain containing 3,303aa) | g.10:11789382G>A,c.205G>A,p.A69T |
| ECHDC3(NM_024693,enoyl CoA hydratase domain containing 3,303aa) | g.10:11784633C>T,c.58C>T,p.R20C |
| ECHDC2(NM_001198961,enoyl CoA hydratase domain containing 2,292aa) | g.1:53387272G>A,c.74C>T,p.A25V |
| ECHDC2(NM_001198961,enoyl CoA hydratase domain containing 2,292aa) | g.1:53373560C>T,c.344G>A,p.R115Q |
| ECHDC2(NM_001198961,enoyl CoA hydratase domain containing 2,292aa) | g.1:53370473C>T,c.547G>A,p.V183M |
| ECHDC2(NM_001198961,enoyl CoA hydratase domain containing 2,292aa) | g.1:53370365C>T,c.655G>A,p.A219T |
| ECHDC2(NM_001198961,enoyl CoA hydratase domain containing 2,292aa) | g.1:53364857G>A,c.742C>T,p.R248X |
| ECHDC1(NM_001002030,enoyl CoA hydratase domain containing 1,301aa) | g.6:127648214C>T,c.296G>A,p.R99H |
| ECHDC1(NM_001002030,enoyl CoA hydratase domain containing 1,301aa) | g.6:127637607G>A,c.404C>T,p.T135I |
| ECHDC1(NM_001002030,enoyl CoA hydratase domain containing 1,301aa) | g.6:127611051A>G,c.869T>C,p.L290S |
| ECH1(NM_001398,enoyl CoA hydratase 1, peroxisomal,328aa) | g.19:39322405G>A,c.8C>T,p.A3V |
| ECH1(NM_001398,enoyl CoA hydratase 1, peroxisomal,328aa) | g.19:39322087T>G,c.122A>C,p.E41A |
| ECH1(NM_001398,enoyl CoA hydratase 1, peroxisomal,328aa) | g.19:39322045T>C,c.164A>G,p.Y55C |
| ECH1(NM_001398,enoyl CoA hydratase 1, peroxisomal,328aa) | g.19:39307735G>C,c.558C>G,p.Y186X |
| ECH1(NM_001398,enoyl CoA hydratase 1, peroxisomal,328aa) | g.19:39307103C>T,c.649G>A,p.G217R |
| ECH1(NM_001398,enoyl CoA hydratase 1, peroxisomal,328aa) | g.19:39306529C>T,c.850G>A,p.D284N |
| ECEL1(NM_004826,endothelin converting enzyme-like 1,775aa) | g.2:233350938G>T,c.426C>A,p.D142E |
| ECEL1(NM_004826,endothelin converting enzyme-like 1,775aa) | g.2:233350644G>T,c.720C>A,p.S240R |
| ECEL1(NM_004826,endothelin converting enzyme-like 1,775aa) | g.2:233349588G>A,c.982C>T,p.H328Y |
| ECEL1(NM_004826,endothelin converting enzyme-like 1,775aa) | g.2:233348851C>G,c.1267G>C,p.E423Q |
| ECEL1(NM_004826,endothelin converting enzyme-like 1,775aa) | g.2:233347561G>A,c.1685C>T,p.T562M |
| ECEL1(NM_004826,endothelin converting enzyme-like 1,775aa) | g.2:233346498C>T,c.1858G>A,p.D620N |
| ECEL1(NM_004826,endothelin converting enzyme-like 1,775aa) | g.2:233345474C>T,c.2105G>A,p.R702Q |
| ECEL1(NM_004826,endothelin converting enzyme-like 1,775aa) | g.2:233345474C>A,c.2105G>T,p.R702L |
| ECEL1(NM_004826,endothelin converting enzyme-like 1,775aa) | g.2:233344925G>A,c.2266C>T,p.R756W |